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PubMed1983

Retinitis pigmentosa--an overview.

Retinitis pigmentosa is a retinal pigment dystrophy of multiple genetic inheritance patterns affecting approximately .5% of the world population. It may be recognized clinically by observing specific ophthalmoscopic changes, as well as through psychophysical and electrodiagnostic testing. It may also be associated with several other genetic conditions. Basic research indicates that while there is no specific cure, certain precautions may prevent rapid acceleration of the disease process. This article presents an overview of retinitis pigmentosa, including its diagnosis and genetic patterns, and discusses various auxiliary aids and filters that may be helpful in protecting and increasing visual function in R.P. patients.

Child↗
PubMed1983

Genetic analysis of HLA in psoriasis.

The results of HLA typing in the sample of 39 families were used for the evaluation of inheritance mode in psoriasis. To discriminate between autosomal dominant and autosomal recessive models of inheritance of "disease" genes Thompson's and Bodmer's method was applied. The distributions of genotypes with HLA-B13 or HLA-B17 did not allow to differentiate between dominant and recessive inheritance pattern. Also the comparison of observed and expected numbers of sib paris sharing two, one or no HLA haplotypes was considered. The attempts to confirm dominant and recessive model in our sample failed. However, the high values of chi-square were due only to the difference among sib pairs with no common HLA haplotypes.

Gene Frequency↗
PubMed1983

Evidence for independent genetic regulation of heart and adipose lipoprotein lipase activity.

The relationship between the genes controlling heart and adipose lipoprotein lipase in fasted animals has been studied. 32 inbred mouse strains were tested for variations in heart or adipose specific activity and thermolability. The survey revealed that specific activity of heart and adipose lipoprotein lipase varied as much as 3-fold and 20-fold, respectively. In thermolability, up to a 2-fold variation was observed in the lipase in each tissue. The correlation coefficient between variations in heart and adipose lipase was apparently not significant for both parameters studied. Additional studies were performed in two strains, BALB/c and C57BL/6, along with the recombinant inbred set derived from them. The two strains did not show genetic variation for lipoprotein lipase thermolability, although the inactivation rate of heart lipase was higher than that of adipose lipase. However, BALB/c and C57BL/6 displayed significant differences in their levels of lipoprotein lipase specific activity. Thus, strain C57BL/6 showed higher heart activity when compared to BALB/c, whereas the latter showed higher adipose lipase activity when compared to C57BL/6, i.e. an inverse relationship. The specific activity levels of heart and adipose lipoprotein lipase in the recombinant inbred strains derived from BALB/c and C57BL/6 exhibited independent inheritance. Thus, in adipose tissue, a single major gene seems to control the variation observed, while the inheritance pattern of heart activity could imply involvement of more than one gene. Moreover, two out of the seven recombinant strains showed distinct recombinant phenotypes, indicating that separate unlinked genes control the variations found in heart and adipose activity. We conclude that the expression of heart and adipose lipoprotein lipase activity is under independent genetic control.

Adipose Tissue↗
PubMed1983

[Bilateral congenital lower lip fistulas].

Congenital lower labial fistulas are extremely rare. This deformity of the vermilion border of the lower lip constantly appears symmetrically to the midline in a frontal direction with blind ending ducts and oval openings. The different pathogenetic causes are reviewed in accordance with the different gradual malformations described in the literature. In contrast to the upper cleft lip and/or cleft palate, congenital bilateral fistulas of the lower lip form a new, distinct syndrome explained by an arrested development leading to cross sulci resulting from a pathological cleaving process. In most cases a striking inheritance pattern with an autosomal dominant trait is associated with this disease. A family suffering from bilateral congenital lower lip fistulas and their leukocyte antigens are presented. All members of this family affected with this anomaly expressed an A3 Bw60 antigen suggesting a close correlation with the HLA-system of the major histocompatibility complex on the leukocytes.

Child↗
PubMed1983

Recurrence of holoprosencephaly in families with a positive history.

A holoprosencephalic child was born into a family with 6 other affected members in 3 generations. A chromosome study of the proband was normal. The recurrence risk of holoprosencephaly was 22% in first degree relatives of affected individuals in this family. The recurrence risk was 22.9% for holoprosencephaly and 34.3% for holoprosencephaly and facial and neural defects when families with affected members in the medical literature in two generations were added. Dominant inheritance with reduced penetrance in family members best explains the inheritance pattern of familial holoprosencephaly.

Abnormalities, Multiple↗
PubMed1983

[Familial syndrome of microcephaly with oculocutaneous albinism and digital anomalies].

Authors make a report concerning a male patient who presents microcephaly, oculocutaneus albinism, hypoplasia of the distal phalanx of the 1st, 3rd and 4th finger of the right hand, 1st, 3rd, 4th and 5th finger of the left hand and agenesia of the distal end of the big toe of the right foot. They think it is a new dysmorphic syndrome. Because of patient's sister presented a similar picture they suggest that it may be an autosomal recessive inheritance pattern.

Abnormalities, Multiple↗
PubMed1983

Epidermolysis bullosa simplex. A new histologic subgroup.

Two patients with a new mechanobullous disease are described. The trauma-induced bullae were present at birth. The nails were deformed in both cases. Both patients were isolated cases; so far, the inheritance pattern is not known. The histologic picture was unique. The keratinocytes were dyskeratotic, enlarged, and had atypical mitoses on light microscopy of neonatal biopsy specimens. Electron microscopically the defect occurred in the tonofilaments, which formed round clumps. The blister formation took place in the lower part of the epidermis.

Cytoskeleton↗
PubMedDate not supplied

[Two cases of familial thyroxine-binding globulin (TBG) deficit identified by the screening of neonatal hypothyroidism (author's transl)].

Thyroxine-binding globulin deficiency is a well-known condition transmitted as a X-linked dominant trait or as autosomal dominant trait. This condition is benign and hypothyroidism is never associated. Values of T4 in the serum are abnormally low, TSH values are normal, RT3U values are high. TBG deficiency probably are much more diffuse than we believed in past. Therefore it's possible to detect this deficit through screening programs for neonatal hypothyroidism. In this paper we describe two cases of TBG deficit. Thyroid function and TBG levels in babies and in their families are studied. In our sample of three years the incidence is I:3170 newborns, The presumable inheritance pattern are both X-linked dominant and autosomal dominant. Neither in affected babies nor in their relatives thyroid function is abnormal.

Female↗
PubMedDate not supplied

[Familial Pierre Robin's anomaly].

The present paper describes a family with daughter and son affected with clinical characteristics of Pierre Robin's anomaly. The pedigree suggests an autosomal recessive inheritance pattern. The authors mention that in order to have more genetic evidence on this trait, an extensive study of families, with at least one proband should be made for a correct genetic analysis.

Child↗
PubMed1982

What is a migraine?

The migrainous patient appears to differ in reaction to stress or environmental changes from nonmigrainous subjects quantitatively rather than qualitatively. An inherited pattern of monoamine metabolism may render the patient more susceptible to such changes, which represent a threat, real or imagined, to the integrity of the brain. The migraine attack may thus be interpreted as a neurohumoral reaction aimed at protecting the brain from some noxious influence by shunting blood away from the cortex. The headache itself may be a by-product of such a reaction, serving, like any pain, to alert the organism to potential danger. The predominantly unilateral site of migraine remains unexplained. A more comprehensive clinical classification of migraine is proposed in the hope that certain entities may prove to correlate with variations in pathophysiology and thus permit more selective therapy.

Catecholamines↗
PubMed1981

A study of a family with inherited disease of cardiac and skeletal muscle. Part I. Clinical, electrocardiographic, echocardiographic, haemodynamic, electrophysiological and electron microscopic studies.

A family consisting of parents and their 6 sons were investigated to elucidate the relationship between a hypertrophic cardiomyopathy, musculoskeletal abnormalities and mental subnormality. The proband was diagnosed as having definite hypertrophic obstructive cardiomyopathy and the remaining family members were shown to have a spectrum of hypertropic non-obstructive cardiomyopathy. Mild muscle weakness was present in 3 sons. All the subjects except for 1 son showed definite signs of electromyographic abnormality, whereas sensory and motor conduction velocities were normal. All the EEGs except for that of the proband were normal. Testicular hypoplasia was present in 3 sons. The inheritance pattern appears to be polygenic autosomal recessive in type. Definite evidence of linkage between hypertrophic cardiomyopathy and HLA awaits further data.

Adolescent↗
PubMed1981

Fragile bones and fragile ears.

Conductive, sensorineural and mixed hearing loss occur in osteogenesis imperfecta in autosomal dominant inheritance pattern. Hearing loss is generally due to the middle and inner ear pathology of osteogenesis imperfecta and only occasionally to the coincidental association of otosclerosis and osteogenesis imperfecta. Two lesions cause the conductive hearing loss of osteogenesis imperfecta: (1) functional ossicular discontinuity due either to stapes superstructure fracture or fibrous replacement, or (2) thick, crumbly, lightly fixed stapes footplate. Cochlear hair cell loss, stria vascularis atrophy and calcification, tectorial membrane distortion and perilymph hemorrhage are autopsy findings that could account for sensorineural hearing loss, which occurs in a surprisingly high percentage of osteogenesis imperfecta patients. Hearing loss occurs earlier in osteogenesis imperfecta than in otosclerosis. Distinctive acoustic impedance and X-ray abnormalities occur in osteogenesis imperfecta. Other otologic findings may include lopped pinna, notching of the helix of the pinna, rosy flush of the medial wall of the middle ear and vestibular abnormalities.

Adult↗
PubMed1981

[Familial and sporadic porphyria cutanea symptomatica (author's transl)].

The measurement of erythrocyte uroporphyrinogen decarboxylase is an easy method to divide porphyria cutanea symptomatica into two different types: (1) a familial type in which erythrocyte urodecarboxylase activity is reduced by about 50% in the patient and in apparently healthy members of his family, the inheritance pattern being consistent with an autosomal dominant trait; and (2) a more widespread sporadic type, with normal erythrocyte urodecarboxylase activity. In the familial type, the enzyme deficiency was found to be present in all tissues examined, whereas in the sporadic type it appears to be restricted to the liver.

Humans↗
PubMed1980

The genetics of fibromuscular dysplasia.

Fibromuscular dysplasia (FMD) is an arterial occlusive disorder of young people that reportedly has affected more than one sibling in several families. A formal pedigree analysis was conducted in 20 families in which at least one member had documented FMD. Clinical symptoms compatible with the disorder were sought in all available family members. In eight families (40%), only the index patient seemed to be affected. The other 12 families contained between one and 11 other relatives who appeared to have FMD. Vertical transmission of the disease was demonstrated repeatedly. There was no consanguinity, and both sexes were equally afflicted. The inheritance pattern for FMD in this investigation was most consistent with an autosomal dominant trait with variable penetrance.

Adolescent↗
PubMed1978

Keratoconus following contact lens wear.

While it can be stated that cases such as ours are examples of simultaneous development of keratoconus are otherwise predisposed individual rather than direct results of contact lens wear, it is still a disturbing development. Although inheritance patterns are vague if existent in keratoconus patients, it might fall on the ophthalmologist to prove that lens wear was not associated with the problem in a legal forum. With increasing attention to medicolegal problems, the burden of careful and reasonably close follow-up cannot be ignored in contact lens patients.

Adult↗
PubMed1980

[Friedreich's disease. Clinical study of ten cases (author's transl)].

Clinical characteristics of ten patients with Friedreich's disease are presented. Two cases were members of the same family, another patient had a brother with the disease, and in two cases there was consanguinity. The dominant inheritance pattern was absent in all cases. Initial symptoms and clinical signs were present under 5 years of age in six cases, and in three of them under 2 years of age. As reported in other series, in our cases the disorder first appeared in the legs. Other early manifestations included skeletal deformities and dysarthria, as well as diplopia, paresthesias and dizziness. Friedreich's ataxia results from pyramidal tract degeneration and changes in the cerebellum. Babinski sign was present in nine patients. Other findings were: muscular weakness, distal amyotrophy and distal dystonia. Two patients suffered epileptic attacks with typical EEG pattern. Kyphoscoliosis and pes cavum were constant skeletal deformities. ECG revealed signs of myocardial ischemis in nine patients, although none of them had symptomatology of heart disease. Glucose tolerance test carried out in three cases showed diabetic curves. Results of nerve speed conduction were as follows: normal in one case; decreased sensitive speed conduction in four cases, and decrease of both sensitive and motor speed conduction in other four cases. EMG showed signs of chronic denervation in three cases. These results coincide with those published by other authors.

Adolescent↗
PubMed1980

Population genetic studies of retinitis pigmentosa.

A questionnaire survey characterized a sample of 670 probands with retinitis pigmentosa (RP) and allied disorders. Segregation analysis provided some evidence for a small proportion of sporadic cases and for decreased segregation ratios of the dominant and recessive genotypes, which could be attributed to delayed age of onset in some cases. The overall incidence of RP was indirectly calculated to be approximately 1 in 3,700, while the incidence of autosomal recessive RP, including at least two genocopies, was estimated to be about 1 in 4,450. Family data analysis included the calculation of the likelihood that each family represented autosomal recessive, autosomal dominant, and X-linked inheritance patterns. These likelihoods were then converted to relative probabilities and summed over the sample population to yield estimates of the proportions of the three Mendelian types. This large, heterogeneous sample indicated that approximately 84% of the cases in the United States may be autosomal recessive, while about 10% are dominant and 6% X-linked recessive.

Adolescent↗
PubMed1980

Gastrointestinal Polyposis: Syndromes and Genetic Mechanisms.

Adenomas and hamartomas, two genetically transmitted histologic types of gastrointestinal polyposis, are associated in syndromes with extragastrointestinal manifestations. Adenomas that predispose to adenocarcinoma are basic to familial polyposis coli, the Gardner syndrome and the Turcot syndrome. Gastrointestinal polyps and extragastrointestinal lesions serve as a warning, providing time for diagnosis and treatment of adenomas to prevent their malignant transformation in patients and their relatives. Hamartomas with no malignancy potential, but having a tendency toward bleeding and bowel obstruction, are associated with the Peutz-Jeghers syndrome, juvenile polyposis, multiple hamartoma syndrome, basal-cell nevus syndrome and the Cronkhite-Canada syndrome. Most of these lesions and syndromes follow the inheritance pattern of a single autosomal dominant gene.

Adenoma↗